contaminationX

contaminationX estimates present-day human contamination in ancient male DNA samples by applying a maximum-likelihood model to low-depth X-chromosome sequencing data to distinguish endogenous ancient molecules from modern contaminants.


Key Features:

  • X-chromosome maximum likelihood: Uses a maximum likelihood approach applied to X-chromosome sequence data from male individuals to infer contamination levels.
  • Low-depth sequencing compatibility: Optimized for low-depth nuclear datasets and reports accurate estimates down to ~0.5× X-chromosome coverage when contamination is below 25%.
  • Performance in challenging scenarios: Maintains accuracy under closely related target/contaminant populations and elevated sequencing error rates, as demonstrated by simulations.
  • Efficiency: Computational runtime is reported as under 5 minutes for typical analyses.
  • Implementation: Provided implementations in C++ and R.

Scientific Applications:

  • Ancient human DNA studies: Provides contamination estimates to support authenticity assessments of endogenous ancient DNA in male samples.
  • Analyses with closely related populations: Applicable when target and contaminant populations are genetically similar, where other methods may underestimate contamination.
  • Low-coverage and error-prone datasets: Suited for studies with low sequencing depth or elevated error rates common in aDNA research.

Methodology:

Applies a maximum likelihood method to low-depth X-chromosome sequencing data from male individuals; performance and accuracy were evaluated using extensive simulations.

Topics

Details

Tool Type:
library
Programming Languages:
R
Added:
11/14/2019
Last Updated:
11/24/2024

Operations

Publications

Moreno-Mayar JV, Korneliussen TS, Dalal J, Renaud G, Albrechtsen A, Nielsen R, Malaspinas A. A likelihood method for estimating present-day human contamination in ancient male samples using low-depth X-chromosome data. Bioinformatics. 2019;36(3):828-841. doi:10.1093/bioinformatics/btz660. PMID:31504166. PMCID:PMC8215924.

PMID: 31504166
PMCID: PMC8215924
Funding: - Danish National Research Foundation: DNRF94 - European Research Council: 679330 - Carlsberg Foundation: CF16-0913 - NIH: NIH 1R01GM116044-01